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Entry
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- #300717 - REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET; RBMX1A
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- OMIM
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<span class="h4">#300717</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/300717"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE EARLY CHILDHOOD ONSET) OR (FHL1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12862&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8961" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300717[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97239" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080090" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/300717" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 97239<br />
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<strong>DO:</strong> 0080090<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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300717
|
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</span>
|
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
|
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REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET; RBMX1A
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
|
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
|
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</th>
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/X/717?start=-3&limit=10&highlight=717">
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Xq26.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/300717"> 300717 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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FHL1
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/300163"> 300163 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/300717" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/300717" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/300717" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- X-linked dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> RESPIRATORY </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Respiratory insufficiency due to muscle weakness leading to ventilator dependency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3810477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3810477</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409622000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409622000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409623005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409623005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J96.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J96.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002093</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> SKELETAL </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Joint contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034392</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Muscle weakness, proximal, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836156&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836156</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009073" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009073</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249939004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249939004</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003701" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003701</a>]</span><br /> -
|
|
Loss of antigravity strength <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678028&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678028</a>]</span><br /> -
|
|
Hyporeflexia/areflexia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847389&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847389</a>]</span><br /> -
|
|
Skeletal muscle biopsy shows reducing bodies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678017&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678017</a>]</span><br /> -
|
|
Inclusions stain positively with nitroblue tetrazolium (NBT) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678018&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678018</a>]</span><br /> -
|
|
Increased fiber size variation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843700&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843700</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003557</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003557</a>]</span><br /> -
|
|
Cytoplasmic inclusion bodies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2700430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2700430</a>]</span><br /> -
|
|
Internal nuclei <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836163&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836163</a>]</span><br />
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|
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
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|
|
- Increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
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|
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- Onset in infancy or early childhood (before age 3 years)<br /> -
|
|
Rapidly progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838681</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span><br /> -
|
|
Loss of ambulation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836843&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836843</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002505</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002505</a>]</span><br /> -
|
|
Death in childhood is frequent due to respiratory failure<br /> -
|
|
See also later childhood-onset form (<a href="/entry/300718">300718</a>)<br />
|
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|
|
</span>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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- Caused by mutation in the four-and-a-half LIM domains 1 gene (FHL1, <a href="/entry/300163#0004">300163.0004</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because severe X-linked reducing body myopathy-1 with infantile or early childhood onset (RBMX1A) is caused by mutation in the FHL1 gene (<a href="/entry/300163">300163</a>) on chromosome Xq26.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death, and a less severe form has onset in late childhood or adulthood (RBMX1B; <a href="/entry/300718">300718</a>) (summary by <a href="#3" class="mim-tip-reference" title="Liewluck, T., Hayashi, Y. K., Ohsawa, M., Kurokawa, R., Fujita, M., Noguchi, S., Nonaka, I., Nishino, I. <strong>Unfolded protein response and aggresome formation in hereditary reducing-body myopathy.</strong> Muscle Nerve 35: 322-326, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17099882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17099882</a>] [<a href="https://doi.org/10.1002/mus.20691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17099882">Liewluck et al., 2007</a> and <a href="#6" class="mim-tip-reference" title="Shalaby, S., Hayashi, Y. K., Nonaka, I., Noguchi, S., Nishino, I. <strong>Novel FHL1 mutations in fatal and benign reducing body myopathy.</strong> Neurology 72: 375-376, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19171836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19171836</a>] [<a href="https://doi.org/10.1212/01.wnl.0000341311.84347.a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19171836">Shalaby et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19171836+17099882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Brooke, M. H., Neville, H. E. <strong>Reducing body myopathy.</strong> Neurology 22: 829-840, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4117299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4117299</a>] [<a href="https://doi.org/10.1212/wnl.22.8.829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4117299">Brooke and Neville (1972)</a> reported 2 unrelated girls with a severe, progressive, fatal muscle disorder. One girl had onset before age 8 weeks of hypotonia, contractures, and respiratory muscle weakness. She died at age 2.5 years. The second child had onset of hypotonia a few days after birth and died at age 9 months. Both had progressive myopathy and decreased deep tendon reflexes. Skeletal muscle biopsy showed fiber size variation without inflammation and intracytoplasmic dark inclusion bodies that reduced nitroblue tetrazolium (NBT), indicating the presence of sulfhydryl-containing compounds. Electron microscopy showed that these 'reducing bodies' were at the edge of muscle fibers near the sarcolemma and were composed of dense osmiophilic material consisting of closely packed fibrillar particles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4117299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Kiyomoto, B. H., Murakami, N., Kobayashi, Y., Nihei, K., Tanaka, T., Takeshita, K., Nonaka, I. <strong>Fatal reducing body myopathy: ultrastructural and immnunohistochemical (sic) observations.</strong> J. Neurol. Sci. 128: 58-65, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7722535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7722535</a>] [<a href="https://doi.org/10.1016/0022-510x(94)00204-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7722535">Kiyomoto et al. (1995)</a> reported 2 unrelated girls with normal development until just over 2 years of age, when they showed progressive hypotonia and proximal muscle weakness. Initial symptoms included frequent falls, Gowers sign, and neck muscle weakness. Serum creatine kinase was elevated. Both had a rapidly progressive course with death from respiratory failure just before age 5 and 4 years, respectively. Muscle biopsy showed variation in fiber size, internal nuclei, mild inflammation, rimmed vacuoles, and numerous reducing bodies in almost all degenerating fibers. Electron microscopy showed that these inclusions consisted of fine granular material, usually located around the degenerating nucleus. Myofibrils with reducing bodies had disorganized cross-striations. These bodies occasionally stained positive for ubiquitin (UBB; <a href="/entry/191339">191339</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7722535" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Schessl, J., Zou, Y., McGrath, M. J., Cowling, B. S., Maiti, B., Chin, S. S., Sewry, C., Battini, R., Hu, Y., Cottle, D. L., Rosenblatt, M., Spruce, L., and 9 others. <strong>Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.</strong> J. Clin. Invest. 118: 904-912, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18274675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18274675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18274675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI34450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18274675">Schessl et al. (2008)</a> reported 2 unrelated girls with classic, severe, early-onset reducing body myopathy. One child presented with weakness leading to loss of ambulation at age 3 years, followed by respiratory insufficiency. At 8 years, she had a tracheostomy and feeding tube with no antigravity strength. In a follow-up of this patient, <a href="#4" class="mim-tip-reference" title="Schessl, J., Taratuto, A. L., Sewry, C., Battini, R., Chin, S. S., Maiti, B., Dubrovsky, A. L., Erro, M. G., Espada, G., Robertella, M., Saccoliti, M., Olmos, P., and 11 others. <strong>Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.</strong> Brain 132: 452-464, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19181672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19181672</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19181672[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awn325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19181672">Schessl et al. (2009)</a> noted that she had mildly delayed motor development and learned to walk at 18 months, but was never able to run or stand up from a sitting position. The disease progressed at age 2 years, with poor head control and neck weakness, leading to wheelchair dependency at age 3. She had proximal muscle weakness, progressive spinal rigidity, and scoliosis. There was no apparent cardiac involvement. The second girl reported by <a href="#5" class="mim-tip-reference" title="Schessl, J., Zou, Y., McGrath, M. J., Cowling, B. S., Maiti, B., Chin, S. S., Sewry, C., Battini, R., Hu, Y., Cottle, D. L., Rosenblatt, M., Spruce, L., and 9 others. <strong>Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.</strong> J. Clin. Invest. 118: 904-912, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18274675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18274675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18274675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI34450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18274675">Schessl et al. (2008)</a> had onset of progressive weakness at age 2 years, followed by loss of ambulation at 4.5 years, and death from respiratory failure at 6.5 years. In both girls, serum creatine kinase was increased, and skeletal muscle biopsies showed inclusion bodies that stained with NBT. <a href="#5" class="mim-tip-reference" title="Schessl, J., Zou, Y., McGrath, M. J., Cowling, B. S., Maiti, B., Chin, S. S., Sewry, C., Battini, R., Hu, Y., Cottle, D. L., Rosenblatt, M., Spruce, L., and 9 others. <strong>Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.</strong> J. Clin. Invest. 118: 904-912, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18274675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18274675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18274675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI34450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18274675">Schessl et al. (2008)</a> isolated the material from the inclusion bodies and used mass spectrometry and immunohistochemical analysis to determine that FHL1 was the primary protein component. In fibers with reducing bodies, FHL1 was present in inclusions and closely associated with the nuclei, but decreased at the I band/Z disc contractile apparatus compared to normal fibers. Other protein components of the reducing bodies included desmin, actin, and ubiquitin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19181672+18274675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Schessl, J., Taratuto, A. L., Sewry, C., Battini, R., Chin, S. S., Maiti, B., Dubrovsky, A. L., Erro, M. G., Espada, G., Robertella, M., Saccoliti, M., Olmos, P., and 11 others. <strong>Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.</strong> Brain 132: 452-464, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19181672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19181672</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19181672[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awn325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19181672">Schessl et al. (2009)</a> reported 5 additional patients with severe, early-onset FHL1-related reducing body myopathy. All patients had sporadic disease without a relevant family history. Onset ranged from 13 months to 4 years. Common features included frequent falls, abnormal gait, progressive proximal muscle weakness, contractures, and scoliosis. There were 4 girls and 1 boy, who was the most severely affected. A detailed report of the boy stated that he had normal development and no difficulties walking at age 13 months. By age 17 months, he had developed significant proximal muscle weakness with inability to rise from the floor, climb stairs, or roll over in bed, as well as axial and cervical muscle weakness with head drop. The disorder was rapidly progressive, and he lost ambulation, had no antigravity strength, and required continuous ventilatory support by age 3. He had severe joint contractures, mild scoliosis, and increased serum creatine kinase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19181672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 unrelated girls with severe, early-onset reducing body myopathy, <a href="#5" class="mim-tip-reference" title="Schessl, J., Zou, Y., McGrath, M. J., Cowling, B. S., Maiti, B., Chin, S. S., Sewry, C., Battini, R., Hu, Y., Cottle, D. L., Rosenblatt, M., Spruce, L., and 9 others. <strong>Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.</strong> J. Clin. Invest. 118: 904-912, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18274675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18274675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18274675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI34450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18274675">Schessl et al. (2008)</a> identified a de novo heterozygous mutation in the FHL1 gene (<a href="/entry/300163#0004">300163.0004</a> and <a href="/entry/300163#0005">300163.0005</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18274675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 1 of the patients reported by <a href="#2" class="mim-tip-reference" title="Kiyomoto, B. H., Murakami, N., Kobayashi, Y., Nihei, K., Tanaka, T., Takeshita, K., Nonaka, I. <strong>Fatal reducing body myopathy: ultrastructural and immnunohistochemical (sic) observations.</strong> J. Neurol. Sci. 128: 58-65, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7722535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7722535</a>] [<a href="https://doi.org/10.1016/0022-510x(94)00204-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7722535">Kiyomoto et al. (1995)</a>, <a href="#6" class="mim-tip-reference" title="Shalaby, S., Hayashi, Y. K., Nonaka, I., Noguchi, S., Nishino, I. <strong>Novel FHL1 mutations in fatal and benign reducing body myopathy.</strong> Neurology 72: 375-376, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19171836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19171836</a>] [<a href="https://doi.org/10.1212/01.wnl.0000341311.84347.a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19171836">Shalaby et al. (2009)</a> identified a heterozygous mutation in the FHL1 gene (<a href="/entry/300163#0008">300163.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19171836+7722535" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 patients with early-onset reducing body myopathy, <a href="#4" class="mim-tip-reference" title="Schessl, J., Taratuto, A. L., Sewry, C., Battini, R., Chin, S. S., Maiti, B., Dubrovsky, A. L., Erro, M. G., Espada, G., Robertella, M., Saccoliti, M., Olmos, P., and 11 others. <strong>Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.</strong> Brain 132: 452-464, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19181672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19181672</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19181672[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awn325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19181672">Schessl et al. (2009)</a> identified de novo mutations affecting the same residue in second LIM domain of the FLH1 gene (H123Y, <a href="/entry/300163#0004">300163.0004</a>; H123L, <a href="/entry/300163#0015">300163.0015</a>; H123Q, <a href="/entry/300163#0016">300163.0016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19181672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Fatal reducing body myopathy: ultrastructural and immnunohistochemical (sic) observations.</strong>
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J. Neurol. Sci. 128: 58-65, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7722535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7722535</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7722535" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Liewluck, T., Hayashi, Y. K., Ohsawa, M., Kurokawa, R., Fujita, M., Noguchi, S., Nonaka, I., Nishino, I.
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<strong>Unfolded protein response and aggresome formation in hereditary reducing-body myopathy.</strong>
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Muscle Nerve 35: 322-326, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17099882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17099882</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17099882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/mus.20691" target="_blank">Full Text</a>]
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<a id="Schessl2009" class="mim-anchor"></a>
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Schessl, J., Taratuto, A. L., Sewry, C., Battini, R., Chin, S. S., Maiti, B., Dubrovsky, A. L., Erro, M. G., Espada, G., Robertella, M., Saccoliti, M., Olmos, P., and 11 others.
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<strong>Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.</strong>
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Brain 132: 452-464, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19181672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19181672</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19181672[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19181672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/awn325" target="_blank">Full Text</a>]
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<a id="Schessl2008" class="mim-anchor"></a>
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Schessl, J., Zou, Y., McGrath, M. J., Cowling, B. S., Maiti, B., Chin, S. S., Sewry, C., Battini, R., Hu, Y., Cottle, D. L., Rosenblatt, M., Spruce, L., and 9 others.
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<strong>Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.</strong>
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J. Clin. Invest. 118: 904-912, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18274675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18274675</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18274675[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18274675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI34450" target="_blank">Full Text</a>]
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<a id="Shalaby2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shalaby, S., Hayashi, Y. K., Nonaka, I., Noguchi, S., Nishino, I.
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<strong>Novel FHL1 mutations in fatal and benign reducing body myopathy.</strong>
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Neurology 72: 375-376, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19171836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19171836</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19171836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000341311.84347.a0" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/27/2015
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Cassandra L. Kniffin - updated : 12/29/2009<br>Cassandra L. Kniffin - updated : 3/13/2009
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Cassandra L. Kniffin : 6/2/2008
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carol : 04/20/2017
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carol : 10/30/2015<br>carol : 10/28/2015<br>carol : 10/28/2015<br>ckniffin : 10/27/2015<br>alopez : 2/3/2012<br>terry : 10/12/2010<br>alopez : 3/4/2010<br>wwang : 1/15/2010<br>ckniffin : 12/29/2009<br>wwang : 3/24/2009<br>ckniffin : 3/13/2009<br>wwang : 6/18/2008<br>ckniffin : 6/16/2008
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<strong>#</strong> 300717
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REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET; RBMX1A
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<strong>ORPHA:</strong> 97239;
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<strong>DO:</strong> 0080090;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Xq26.3
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<span class="mim-font">
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Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset
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300717
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X-linked dominant
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3
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FHL1
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<span class="mim-font">
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300163
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<p>A number sign (#) is used with this entry because severe X-linked reducing body myopathy-1 with infantile or early childhood onset (RBMX1A) is caused by mutation in the FHL1 gene (300163) on chromosome Xq26.</p>
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<strong>Description</strong>
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<p>Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death, and a less severe form has onset in late childhood or adulthood (RBMX1B; 300718) (summary by Liewluck et al., 2007 and Shalaby et al., 2009). </p>
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<strong>Clinical Features</strong>
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<p>Brooke and Neville (1972) reported 2 unrelated girls with a severe, progressive, fatal muscle disorder. One girl had onset before age 8 weeks of hypotonia, contractures, and respiratory muscle weakness. She died at age 2.5 years. The second child had onset of hypotonia a few days after birth and died at age 9 months. Both had progressive myopathy and decreased deep tendon reflexes. Skeletal muscle biopsy showed fiber size variation without inflammation and intracytoplasmic dark inclusion bodies that reduced nitroblue tetrazolium (NBT), indicating the presence of sulfhydryl-containing compounds. Electron microscopy showed that these 'reducing bodies' were at the edge of muscle fibers near the sarcolemma and were composed of dense osmiophilic material consisting of closely packed fibrillar particles. </p><p>Kiyomoto et al. (1995) reported 2 unrelated girls with normal development until just over 2 years of age, when they showed progressive hypotonia and proximal muscle weakness. Initial symptoms included frequent falls, Gowers sign, and neck muscle weakness. Serum creatine kinase was elevated. Both had a rapidly progressive course with death from respiratory failure just before age 5 and 4 years, respectively. Muscle biopsy showed variation in fiber size, internal nuclei, mild inflammation, rimmed vacuoles, and numerous reducing bodies in almost all degenerating fibers. Electron microscopy showed that these inclusions consisted of fine granular material, usually located around the degenerating nucleus. Myofibrils with reducing bodies had disorganized cross-striations. These bodies occasionally stained positive for ubiquitin (UBB; 191339). </p><p>Schessl et al. (2008) reported 2 unrelated girls with classic, severe, early-onset reducing body myopathy. One child presented with weakness leading to loss of ambulation at age 3 years, followed by respiratory insufficiency. At 8 years, she had a tracheostomy and feeding tube with no antigravity strength. In a follow-up of this patient, Schessl et al. (2009) noted that she had mildly delayed motor development and learned to walk at 18 months, but was never able to run or stand up from a sitting position. The disease progressed at age 2 years, with poor head control and neck weakness, leading to wheelchair dependency at age 3. She had proximal muscle weakness, progressive spinal rigidity, and scoliosis. There was no apparent cardiac involvement. The second girl reported by Schessl et al. (2008) had onset of progressive weakness at age 2 years, followed by loss of ambulation at 4.5 years, and death from respiratory failure at 6.5 years. In both girls, serum creatine kinase was increased, and skeletal muscle biopsies showed inclusion bodies that stained with NBT. Schessl et al. (2008) isolated the material from the inclusion bodies and used mass spectrometry and immunohistochemical analysis to determine that FHL1 was the primary protein component. In fibers with reducing bodies, FHL1 was present in inclusions and closely associated with the nuclei, but decreased at the I band/Z disc contractile apparatus compared to normal fibers. Other protein components of the reducing bodies included desmin, actin, and ubiquitin. </p><p>Schessl et al. (2009) reported 5 additional patients with severe, early-onset FHL1-related reducing body myopathy. All patients had sporadic disease without a relevant family history. Onset ranged from 13 months to 4 years. Common features included frequent falls, abnormal gait, progressive proximal muscle weakness, contractures, and scoliosis. There were 4 girls and 1 boy, who was the most severely affected. A detailed report of the boy stated that he had normal development and no difficulties walking at age 13 months. By age 17 months, he had developed significant proximal muscle weakness with inability to rise from the floor, climb stairs, or roll over in bed, as well as axial and cervical muscle weakness with head drop. The disorder was rapidly progressive, and he lost ambulation, had no antigravity strength, and required continuous ventilatory support by age 3. He had severe joint contractures, mild scoliosis, and increased serum creatine kinase. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In 2 unrelated girls with severe, early-onset reducing body myopathy, Schessl et al. (2008) identified a de novo heterozygous mutation in the FHL1 gene (300163.0004 and 300163.0005, respectively). </p><p>In 1 of the patients reported by Kiyomoto et al. (1995), Shalaby et al. (2009) identified a heterozygous mutation in the FHL1 gene (300163.0008). </p><p>In 5 patients with early-onset reducing body myopathy, Schessl et al. (2009) identified de novo mutations affecting the same residue in second LIM domain of the FLH1 gene (H123Y, 300163.0004; H123L, 300163.0015; H123Q, 300163.0016). </p>
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
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Brooke, M. H., Neville, H. E.
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<strong>Reducing body myopathy.</strong>
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Neurology 22: 829-840, 1972.
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[PubMed: 4117299]
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[Full Text: https://doi.org/10.1212/wnl.22.8.829]
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Kiyomoto, B. H., Murakami, N., Kobayashi, Y., Nihei, K., Tanaka, T., Takeshita, K., Nonaka, I.
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<strong>Fatal reducing body myopathy: ultrastructural and immnunohistochemical (sic) observations.</strong>
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J. Neurol. Sci. 128: 58-65, 1995.
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[PubMed: 7722535]
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[Full Text: https://doi.org/10.1016/0022-510x(94)00204-2]
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Liewluck, T., Hayashi, Y. K., Ohsawa, M., Kurokawa, R., Fujita, M., Noguchi, S., Nonaka, I., Nishino, I.
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<strong>Unfolded protein response and aggresome formation in hereditary reducing-body myopathy.</strong>
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Muscle Nerve 35: 322-326, 2007.
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[PubMed: 17099882]
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[Full Text: https://doi.org/10.1002/mus.20691]
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Schessl, J., Taratuto, A. L., Sewry, C., Battini, R., Chin, S. S., Maiti, B., Dubrovsky, A. L., Erro, M. G., Espada, G., Robertella, M., Saccoliti, M., Olmos, P., and 11 others.
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<strong>Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.</strong>
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Brain 132: 452-464, 2009.
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[PubMed: 19181672]
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[Full Text: https://doi.org/10.1093/brain/awn325]
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Schessl, J., Zou, Y., McGrath, M. J., Cowling, B. S., Maiti, B., Chin, S. S., Sewry, C., Battini, R., Hu, Y., Cottle, D. L., Rosenblatt, M., Spruce, L., and 9 others.
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<strong>Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.</strong>
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J. Clin. Invest. 118: 904-912, 2008.
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[PubMed: 18274675]
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[Full Text: https://doi.org/10.1172/JCI34450]
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Shalaby, S., Hayashi, Y. K., Nonaka, I., Noguchi, S., Nishino, I.
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<strong>Novel FHL1 mutations in fatal and benign reducing body myopathy.</strong>
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Neurology 72: 375-376, 2009.
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[PubMed: 19171836]
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[Full Text: https://doi.org/10.1212/01.wnl.0000341311.84347.a0]
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Cassandra L. Kniffin - updated : 10/27/2015<br>Cassandra L. Kniffin - updated : 12/29/2009<br>Cassandra L. Kniffin - updated : 3/13/2009
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Cassandra L. Kniffin : 6/2/2008
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carol : 04/20/2017<br>carol : 10/30/2015<br>carol : 10/28/2015<br>carol : 10/28/2015<br>ckniffin : 10/27/2015<br>alopez : 2/3/2012<br>terry : 10/12/2010<br>alopez : 3/4/2010<br>wwang : 1/15/2010<br>ckniffin : 12/29/2009<br>wwang : 3/24/2009<br>ckniffin : 3/13/2009<br>wwang : 6/18/2008<br>ckniffin : 6/16/2008
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